Background Despite growing recognition of cognitive disengagement syndrome (CDS), the developmental mechanisms linking early adversity to CDS symptoms remain largely unknown. This study addresses this gap by examining whether executive function (EF) serves as a cognitive mechanism linking cumulative adverse childhood experiences (ACEs) to later CDS ...
Mahsa P. Yousefkhani +3 more
wiley +1 more source
Posterior segment findings in Hunter Syndrome: Case report and review. [PDF]
Majmudar IP, Ismail HO, Dang S, Gill MK.
europepmc +1 more source
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling? [PDF]
Jezela-Stanek A +6 more
europepmc +1 more source
Psychological Resilience and End‐of‐Life Symptom Burden: Evidence From a National Cohort Study
Higher psychological resilience was associated with lower predicted probabilities of end‐of‐life neuropsychiatric symptoms. Neuropsychiatric symptoms demonstrated the strongest associations with resilience, with progressively lower probabilities of depression, confusion, difficulty awakening, and uncontrolled temper across resilience quartiles (Q1 ...
Niousha Bastian Elio Omid +5 more
wiley +1 more source
Bilateral Bow Hunter Syndrome Associated with Loss of Cervical Physiological Curvature. [PDF]
Wang S, Bi Y, Chen Y.
europepmc +1 more source
ABSTRACT Background Young people with intellectual disability often have complex healthcare needs. Parent/caregivers can enhance their child's involvement in healthcare decision‐making to improve treatment adherence and health outcomes. Healthcare decision‐making is embedded within health literacy skillsets, and for people with intellectual disability ...
Jessica Keeley +9 more
wiley +1 more source
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants. [PDF]
Zanetti A, D'Avanzo F, Tomanin R.
europepmc +1 more source
Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah +8 more
wiley +1 more source
Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report. [PDF]
Tomita K +8 more
europepmc +1 more source
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source

